KEGG   DISEASE: Retinitis pigmentosa
H00527                      Disease                                

Retinitis pigmentosa
Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00527  Retinitis pigmentosa
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00527  Retinitis pigmentosa
hsa04744  Phototransduction
hsa00830  Retinol metabolism
hsa03040  Spliceosome
hsa00900  Terpenoid backbone biosynthesis
(RP1) RP1 [HSA:6101] [KO:K19538]
(RP2) RP2 [HSA:6102] [KO:K18272]
(RP3/RP15) RPGR [HSA:6103] [KO:K19607]
(RP4) RHO [HSA:6010] [KO:K04250]
(RP7) PRPH2 [HSA:5961] [KO:K17343]
(RP7) ROM1 [HSA:6094] [KO:K17344]
(RP9) RP9 [HSA:6100] [KO:K19604]
(RP10) IMPDH1 [HSA:3614] [KO:K00088]
(RP11) PRPF31 [HSA:26121] [KO:K12844]
(RP12) CRB1 [HSA:23418] [KO:K16681]
(RP13) PRPF8 [HSA:10594] [KO:K12856]
(RP14) TULP1 [HSA:7287] [KO:K19600]
(RP17) CA4 [HSA:762] [KO:K18246]
(RP18) PRPF3 [HSA:9129] [KO:K12843]
(RP19) ABCA4 [HSA:24] [KO:K05644]
(RP20) RPE65 [HSA:6121] [KO:K11158]
(RP23) OFD1 [HSA:8481] [KO:K16480]
(RP25) EYS [HSA:346007] [KO:K19601]
(RP26) CERKL [HSA:375298] [KO:K19602]
(RP27) NRL [HSA:4901] [KO:K09038]
(RP28) FAM161A [HSA:84140] [KO:K16772]
(RP30) FSCN2 [HSA:25794] [KO:K17455]
(RP31) TOPORS [HSA:10210] [KO:K10631]
(RP33) SNRNP200 [HSA:23020] [KO:K12854]
(RP35) SEMA4A [HSA:64218] [KO:K06521]
(RP36) PRCD [HSA:768206] [KO:K19637]
(RP37) NR2E3 [HSA:10002] [KO:K08546]
(RP38) MERTK [HSA:10461] [KO:K05117]
(RP39) USH2A [HSA:7399] [KO:K19636]
(RP40) PDE6B [HSA:5158] [KO:K13756]
(RP41) PROM1 [HSA:8842] [KO:K06532]
(RP42) KLHL7 [HSA:55975] [KO:K10445]
(RP43) PDE6A [HSA:5145] [KO:K08718]
(RP44) RGR [HSA:5995] [KO:K04254]
(RP45) CNGB1 [HSA:1258] [KO:K04952]
(RP46) IDH3B [HSA:3420] [KO:K00030]
(RP47) SAG [HSA:6295] [KO:K19627]
(RP48) GUCA1B [HSA:2979] [KO:K08328]
(RP49) CNGA1 [HSA:1259] [KO:K04948]
(RP50) BEST1 [HSA:7439] [KO:K13878]
(RP54) C2orf71 [HSA:388939] [KO:K24165]
(RP55) ARL6 [HSA:84100] [KO:K07951]
(RP56) IMPG2 [HSA:50939] [KO:K19017]
(RP57) PDE6G [HSA:5148] [KO:K13759]
(RP58) ZNF513 [HSA:130557] [KO:K24373]
(RP59) DHDDS [HSA:79947] [KO:K11778]
(RP60) PRPF6 [HSA:24148] [KO:K12855]
(RP61) CLRN1 [HSA:7401] [KO:K23841]
(RP62) MAK [HSA:4117] [KO:K08829]
(RP64) C8orf37 [HSA:157657]
(RP66) RBP3 [HSA:5949] [KO:K23911]
(RP67) NEK2 [HSA:4751] [KO:K20872]
(RP68) SLC7A14 [HSA:57709] [KO:K13871]
(RP69) KIZ [HSA:55857] [KO:K16539]
(RP70) PRPF4 [HSA:9128] [KO:K12662]
(RP71) IFT172 [HSA:26160] [KO:K19676]
(RP72) ZNF408 [HSA:79797] [KO:K24372]
(RP73) HGSNAT [HSA:138050] [KO:K10532]
(RP74) BBS2 [HSA:583] [KO:K16747]
(RP75) AGBL5 [HSA:60509] [KO:K23438]
(RP82) ARL2BP [HSA:23568] [KO:K16742]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
Voretigene neparvovec [DR:D11008] (biallelic RPE65 mutated)
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: D012174
OMIM: 180100 312600 300029 300455 613731 608133 180104 180105 600138 600105 600059 600132 600852 601414 601718 613794 300424 602772 608380 613750 606068 607921 609923 610359 610282 610599 611131 613862 613809 613801 612095 612943 613810 613769 613767 612572 613758 613827 613756 613194 613464 613428 613575 613581 613582 613617 613861 613983 614180 614181 614500 615565 615725 615780 615922 616394 616469 616544 616562 617023 615434 268000 607475
Daiger SP, Bowne SJ, Sullivan LS
Perspective on genes and mutations causing retinitis pigmentosa.
Arch Ophthalmol 125:151-8 (2007)
Phelan JK, Bok D
A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.
Mol Vis 6:116-24 (2000)
Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP
Gene mutations in retinitis pigmentosa and their clinical implications.
Clin Chim Acta 351:5-16 (2005)
PMID:21233585 (RP4, RP7, RP20, RP38, RP40, RP43)
Sakamoto K, Mori A, Nakahara T, Ishii K
[Cause of retinitis pigmentosa and new therapeutics under development] Japanese
Nihon Yakurigaku Zasshi 137:22-6 (2011)
Li T, Sandberg MA, Pawlyk BS, Rosner B, Hayes KC, Dryja TP, Berson EL
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures.
Proc Natl Acad Sci U S A 95:11933-8 (1998)
Pearce-Kelling SE, Aleman TS, Nickle A, Laties AM, Aguirre GD, Jacobson SG, Acland GM
Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa.
Mol Vis 7:42-7 (2001)
Tao W, Wen R, Goddard MB, Sherman SD, O'Rourke PJ, Stabila PF, Bell WJ, Dean BJ, Kauper KA, Budz VA, Tsiaras WG, Acland GM, Pearce-Kelling S, Laties AM, Aguirre GD
Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa.
Invest Ophthalmol Vis Sci 43:3292-8 (2002)
Adams NA, Awadein A, Toma HS
The retinal ciliopathies.
Ophthalmic Genet 28:113-25 (2007)
Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Arch Ophthalmol 119:260-7 (2001)
Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
Am J Hum Genet 88:207-15 (2011)

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